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Glaucoma is a group of diseases with progressive optic disk and /or visual fields changes. The mainstays of current therapies (medical, laser, surgery) are focused of lowering intraocular pressure (IOP). The problems and failures with such therapies and the studies on physiopathology and genetics of glaucoma started explorations for new therapeutic modalities. Advances in our understanding of the genetic basis of glaucoma include the discovery of 14 linked sites (GLC 1A through GLC 1N) in primary open-angle glaucoma with three genes identified at these loci: myocilin, optineurin, and WDR 36. In the secondary glaucomas such as pseudoexfoliation syndromes, LOXL1 gene polymorphisms have been identified. Gene therapy can be used to replace a mutated gene that causes disease with a healthy copy of the gene, to inactivate or wipe out the aberrant gene that is responsible for the disease. This therapy can also be used to add or remove genes that are indirectly related to the pathophysiology of the disease. Ocular gene therapy can also provide the advantage of delivery of genes that express therapeutic proteins in a localized and sustained way. Gene therapy studies for the treatment of glaucoma are focused on lowering intraocular pressure and neuroprotection. An ideal gene delivery system is one that is able to efficiently deliver the genes to the target tissue with specificity and safety. Both viral and nonviral vector delivery systems have been tested in the animal eyes. The target tissues of gene therapy are trabecular meshwork, ciliary body, ciliary muscle, retina and optic disk. [ABSTRACT FROM AUTHOR]

Cornelia de Lange Syndrome (CdLS) is a rarely seen multisystemic disorder that has characteristic features such as mental retardation, prenatal and postnatal growth retardation, upper-limb abnormalities, congenital cardiac, gastrointestinal, genitourinary and ophthalmologic abnormalities and characteristic facies. In this case, we aimed to present ophthalmologic abnormalities in a patient associated with glaucoma that was seen very rarely with CdLS. [ABSTRACT FROM AUTHOR]